SOUČEK, Ondřej, Stanislav VOHÁŇKA, Jana ZAORÁLKOVÁ, Iva FALKOVÁ, Renata HRABÁLKOVÁ, M. FALK a Zdeněk LUKÁŠ. Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2. Česká a Slovenská neurologie a neurochirurgie. Praha: Česká lékařská společnost J.E.Purkyně, 2012, roč. 75, č. 5, s. 606-609. ISSN 1210-7859. |
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@article{989805, author = {Souček, Ondřej and Voháňka, Stanislav and Zaorálková, Jana and Falková, Iva and Hrabálková, Renata and Falk, M. and Lukáš, Zdeněk}, article_location = {Praha}, article_number = {5}, keywords = {myotonic dystrophy; lymphocytes; MBNL1 sequestration; ZNF9 expanded transcript}, language = {eng}, issn = {1210-7859}, journal = {Česká a Slovenská neurologie a neurochirurgie}, title = {Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2}, volume = {75}, year = {2012} }
TY - JOUR ID - 989805 AU - Souček, Ondřej - Voháňka, Stanislav - Zaorálková, Jana - Falková, Iva - Hrabálková, Renata - Falk, M. - Lukáš, Zdeněk PY - 2012 TI - Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2 JF - Česká a Slovenská neurologie a neurochirurgie VL - 75 IS - 5 SP - 606-609 EP - 606-609 PB - Česká lékařská společnost J.E.Purkyně SN - 12107859 KW - myotonic dystrophy KW - lymphocytes KW - MBNL1 sequestration KW - ZNF9 expanded transcript N2 - Myotonic dystrophy type 2 (DM2) results from the (CCTG)n expansion in the ZNF9 gene located on the long arm of chromosome 3. The pathogenesis of DM2 includes sequestration of muscleblind-like (MBNL) proteins by pathological CCUG(exp) ZNF9 mRNA transcripts, leading to abnormal splicing of target pre-mRNAs and, consequently, to the development of the pathological phenotype. In this report, we demonstrate expression of the ZNF9 transcript, ZNF9 protein as well as MBNL1 protein in lymphocytes of non-DM controls and DM2 patients. In DM2 patients lymphocytes, MBNL1 protein is co-localized and partly sequestered in CCUG(exp) ZNF9 mRNA intranuclear foci. We suppose that non-muscle tissues expressing ZNF9 transcript in DM2 patients might be affected by a similar molecular mechanism as the skeletal muscle. The presence of the expanded ZNF9 transcript in peripheral blood lymphocytes may be useful for rapid diagnosis of DM2 from blood smears of suspected patients, or for a follow-up of patients treated with molecular therapy. ER -
SOUČEK, Ondřej, Stanislav VOHÁŇKA, Jana ZAORÁLKOVÁ, Iva FALKOVÁ, Renata HRABÁLKOVÁ, M. FALK a Zdeněk LUKÁŠ. Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2. \textit{Česká a Slovenská neurologie a neurochirurgie}. Praha: Česká lékařská společnost J.E.Purkyně, 2012, roč.~75, č.~5, s.~606-609. ISSN~1210-7859.
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